Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

doi:10.1136/jmedgenet-2020-107497

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

Journal of medical genetics - 1 Apr 2022

Nuovo Sara, Micalizzi Alessia, Romaniello Romina, Arrigoni Filippo, Ginevrino Monia, Casella Antonella, Serpieri Valentina, D'Arrigo Stefano, Briguglio Marilena, Salerno Grazia Gabriella, Rossato Sara, Sartori Stefano, Leuzzi Vincenzo, Battini Roberta, Ben-Zeev Bruria, Graziano Claudio, Mirabelli Badenier Marisol, Brankovic Vesna, Nardocci Nardo, Spiegel Ronen, Petković Ramadža Danijela, Vento Giovanni, Marti Itxaso, Simonati Alessandro, Dipresa Savina, Freri Elena, Mazza Tommaso, Bassi Maria Teresa, Bosco Luca, Travaglini Lorena, Zanni Ginevra, Bertini Enrico Silvio, Vanacore Nicola, Borgatti Renato, Valente Enza Maria

Abstract excerpt

BACKGROUND: Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders characterised by concurrent hypoplasia of the pons and the cerebellum and variable clinical and imaging features. The current classification includes 13 subtypes, with ~20 known causative genes. Attempts have been made to delineate the phenotypic spectrum associated to specific PCH genes, yet clinical and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cancer-related molecular mechanisms research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellar Diseases

Share to Cerebellum

Share to Fetal and Pediatric Neurological Disorders

Share to Mutation

Share to Nuclear Proteins

Share to Phenotype

Share to RNA regulation and disease

Source

Open in PubMed

Identifiers

PMID: 34085948
DOI: 10.1136/jmedgenet-2020-107497

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.PMID 34085948Read ↗

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.Semantic proximity Read ↗

Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort.Semantic proximity Read ↗

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.Semantic proximity Read ↗

Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.Semantic proximity Read ↗

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Semantic proximity Read ↗

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.Semantic proximity Read ↗

Clinical, Radiological and Genetic Variation In Pontocerebellar Hypoplasia Disorder & Our Clinical ExperienceSemantic proximity Read ↗

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Semantic proximity Read ↗

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.Semantic proximity Read ↗

Pontocerebellar hypoplasia.Semantic proximity Read ↗

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.Semantic proximity Read ↗

Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.